Analysis Tools|
Allele Symbol Allele Name Allele ID |
Gnastm4Lsw targeted mutation 4, Lee S Weinstein MGI:3582306 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice with a maternally inherited allele exhibit higher levels of serum FGF23
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• mice with a maternally inherited allele exhibit higher renal Cyp24a1 mRNA but not Cyp27b1 mRNA
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| pseudohypoparathyroidism type 1A | DOID:0080053 |
OMIM:103580 |
J:233851 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• when the allele is maternally inherited, about 50% of heterozygotes die before 3 weeks of age, mostly in the first 3 days after birth
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• when the allele is maternally inherited, serum leptin levels are 3-fold and more than 2-fold higher compared to wild-type and heterozygotes with a paternally inherited allele, respectively
• however, when the allele is paternally inherited, serum leptin levels are still increased compared to wild-type
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• serum triglyceride levels are increased in heterozygotes with a maternally inherited allele compared to those with a paternally inherited allele
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• when the allele is maternally inherited, subcutaneous edema is present at birth but resolves by 1-2 days of age
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• when the allele is maternally inherited but not when it is paternally inherited, resting metabolism is significantly lower at 23 and 30 degrees C; however, serum TSH and free thyroxine levels are normal suggesting that thyroid function is not impaired
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• serum glucose levels are increased in heterozygotes with a maternally inherited allele compared to those with a paternally inherited allele
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• when the allele is paternally inherited, serum insulin but not serum glucose levels are elevated compared to wild-type mice
• serum insulin levels are increased in heterozygotes with a maternally inherited allele compared to levels in heterozygotes with a paternally inherited allele
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• glucose tolerance is impaired in random-fed mice when the allele is maternally or paternally inherited
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• insulin resistance is seen when the allele is maternally or paternally inherited, although the insulin resistance is more severe when the allele is maternally inherited
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• when the allele is maternally inherited, increased lipid accumulation is seen in the white and brown fat
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• when the allele is paternally inherited, total body weight is normal but the brown fat weight is increased
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• when the allele is paternally inherited, total body weight is normal but the white fat pad weight is increased
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• when the allele is maternally inherited, fat mass is increased about 2-fold
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• when the allele is paternally inherited, greater lipid accumulation is seen in both the brown and white fat in the interscapular fat pad
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• when the allele is maternally inherited, body weight is increased by about 20%; however, when the allele is paternally inherited, body weight is not significantly different from wild-type
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• heterozygotes inheriting the allele from the mother display a more severe phenotype
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 12/10/2024 MGI 6.24 |
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